FERNANDA DE TOLEDO GONCALVES
Projetos de Pesquisa
Unidades Organizacionais
LIM/40 - Laboratório de Imunohematologia e Hematologia Forense, Hospital das Clínicas, Faculdade de Medicina
2 resultados
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- SLC24A5 and ASIP as phenotypic predictors in Brazilian population for forensic purposes(2015) LIMA, Felicia de Araujo; GONCALVES, Fernanda de Toledo; FRIDMAN, CintiaPigmentation is a variable and complex trait in humans and it is determined by the interaction of environmental factors, age, disease, hormones, exposure to ultraviolet radiation and genetic factors, including pigmentation genes. Many polymorphisms of these genes have been associated with phenotypic diversity of skin, eyes and hair color in homogeneous populations. Phenotype prediction from biological samples using genetic information has benefited forensic area in some countries, leading some criminal investigations. Herein, we evaluated the association between polymorphisms in the genes SLC24A5 (rs1426654) and ASIP (rs6058017) with skin, eyes and hair colors, in 483 healthy individuals from Brazilian population for attainable use in forensic practice. The volunteers answered a questionnaire where they self-reported their skin, eye and hair colors. The polymorphic homozygous genotype of rs1426654(*)A and rs6058017(*)A in SLC24A5 and ASIP respectively, showed strongest association with fairer skin (OR 47.8; CI 14.1-161.6 and OR 8.6; CI 2.5-29.8); SLC24A5 alone showed associations with blue eyes (OR 20.7; CI 1.2-346.3) and blond hair (OR 26.6; CI 1.5-460.9). Our data showed that polymorphic genotypes (AA), in both genes, are correlated with characteristics of light pigmentation, while the ancestral genotype (GG) is related to darker traits, corroborating with previous studies in European and African populations. These associations show that specific molecular information of an individual may be useful to access some phenotypic features in an attempt to help forensic investigations, not only on crime scene samples but also in cases of face reconstructions in unknown bodies.
- Is it possible to use Forensic DNA phenotyping in Brazilian population?(2015) FRIDMAN, Cintia; CARDENA, Mari Maki Siria Godoy; LIMA, Felicia de Araujo; GONCALVES, Fernanda de ToledoThe prediction of human traits in order to help forensic investigations has been one of the most interesting researches in the last decade. Some pigmentation genes such as SLC45A2 variants have been associated with phenotypic diversity of skin, eyes and hair color in homogeneous populations. The aim of this study was evaluate the possibility of association between three SLC45A2 polymorphisms (rs26722, rs16891982 and 2,278,007) with skin, eye and hair color in a sample of 598 individuals of admixed population from Brazil, intending to use it in forensic genetic situations. DNA sequencing was performed with BigDye Terminator v3.1 and capillary electrophoresis was performed in ABI3130. Presence of rs16891982 variant (C>G) was associated with non-black skin (OR 16.35; CI 6.014-44.5), as well as with non-black hair (OR 18.12. CI 5.25-62.6) and light eyes (OR 5.04; CI 2.6-9.6). Polymorphism rs2278007 in heterozygous (AG) was associated with a lower probability of individual presenting lighter pigmentation of skin and hair. Our data corroborates the findings of other studies in homogeneous populations, suggesting that the analysis of SLC45A2 polymorphisms can be used as a tool to access some phenotypic traits and use to help forensic identifications as molecular predictor of phenotypes also in admixed populations. These results supplement the previous ones we showed in the same population with the genes SLC24A5 and ASIP, and they are part of major project, which aims to study the correlation of several pigmentation genes and skin, hair and eye color in Brazilian population.